Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABCA9 0 genome.wustl.edu 37 17 66979929 66979929 + Missense_Mutation SNP T T C TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 17 66979929 66979929 T C SNP ABCA9 ENST00000340001 human ensembl 69_37n -1 known missense c.4561 p.K1521E 1.000 pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 101 0 0.00 101 17 14.41 - - - ABCC6 0 genome.wustl.edu 37 16 16263518 16263518 + Frame_Shift_Del DEL G G - TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 16 16263518 16263518 G - DEL ABCC6 ENST00000205557 human ensembl 69_37n -1 known frame_shift_del c.2980 p.L994fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 14 0 0.00 5 3 37.50 - - - AGBL5 0 genome.wustl.edu 37 2 27275875 27275875 + Missense_Mutation SNP G G C TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 2 27275875 27275875 G C SNP AGBL5 ENST00000360131 human ensembl 69_37n +1 known missense c.49 p.G17R 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 58 0 0.00 20 26 56.52 - - - APOB 0 genome.wustl.edu 37 2 21232258 21232258 + Missense_Mutation SNP A A C TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 2 21232258 21232258 A C SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.7482 p.N2494K 0.888 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 136 1 0.73 61 15 19.74 - - - ARHGAP31 0 genome.wustl.edu 37 3 119134300 119134300 + Missense_Mutation SNP G G A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 3 119134300 119134300 G A SNP ARHGAP31 ENST00000264245 human ensembl 69_37n +1 known missense c.3524 p.R1175H 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 42 0 0.00 33 8 19.51 - - - ASNS 0 genome.wustl.edu 37 7 97481770 97481770 + Missense_Mutation SNP G G A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 7 97481770 97481770 G A SNP ASNS ENST00000175506 human ensembl 69_37n -1 known missense c.1487 p.A496V 0.134 NULL pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB - no_errors ASNS HGNC ENSG00000070669 79 0 0.00 68 12 15.00 - - - ATP2A1 0 genome.wustl.edu 37 16 28899040 28899040 + Missense_Mutation SNP G G A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 16 28899040 28899040 G A SNP ATP2A1 ENST00000357084 human ensembl 69_37n +1 known missense c.925 p.E309K 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A1 HGNC ENSG00000196296 54 0 0.00 38 13 25.49 - - - ATP2B3 0 genome.wustl.edu 37 X 152835130 152835130 + Missense_Mutation SNP C C A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f X 152835130 152835130 C A SNP ATP2B3 ENST00000359149 human ensembl 69_37n +1 known missense c.3412 p.L1138I 1.000 pfam_ATP_Ca_trans_C pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_ATP_Ca_trans_C,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B3 HGNC ENSG00000067842 126 0 0.00 104 21 16.80 - - - BLK 0 genome.wustl.edu 37 8 11412989 11412989 + Missense_Mutation SNP G G T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 8 11412989 11412989 G T SNP BLK ENST00000259089 human ensembl 69_37n +1 known missense c.768 p.W256C 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors BLK HGNC ENSG00000136573 76 0 0.00 21 40 65.57 - - - BRCA1 0 genome.wustl.edu 37 17 41245390 41245390 + Nonsense_Mutation SNP C C A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 17 41245390 41245390 C A SNP BRCA1 ENST00000471181 human ensembl 69_37n -1 known nonsense c.2158 p.E720* 0.008 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 82 0 0.00 9 33 78.57 - - - CARD17 0 genome.wustl.edu 37 11 104971500 104971500 + Missense_Mutation SNP A A T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 11 104971500 104971500 A T SNP CARD17 ENST00000375707 human ensembl 69_37n -1 known missense c.14 p.V5D 0.090 pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD - no_errors CARD17 HGNC ENSG00000255221 137 0 0.00 61 16 20.78 - - - CD9 0 genome.wustl.edu 37 12 6344725 6344725 + Silent SNP C C G TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 12 6344725 6344725 C G SNP CD9 ENST00000009180 human ensembl 69_37n +1 known silent c.531 p.T177 0.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD9 HGNC ENSG00000010278 84 0 0.00 37 13 26.00 - - - CHST9 0 genome.wustl.edu 37 18 24497140 24497140 + Missense_Mutation SNP C C A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 18 24497140 24497140 C A SNP CHST9 ENST00000284224 human ensembl 69_37n -1 known missense c.415 p.A139S 0.000 NULL pfam_Sulfotransferase - no_errors CHST9 HGNC ENSG00000154080 105 1 0.94 86 30 25.86 - - - COL6A6 0 genome.wustl.edu 37 3 130380981 130380981 + Missense_Mutation SNP C C G TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 3 130380981 130380981 C G SNP COL6A6 ENST00000358511 human ensembl 69_37n +1 known missense c.6331 p.Q2111E 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 98 0 0.00 52 18 25.71 - - - CRAT 0 genome.wustl.edu 37 9 131860611 131860611 + Missense_Mutation SNP G G A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 9 131860611 131860611 G A SNP CRAT ENST00000455396 human ensembl 69_37n -1 novel missense c.40 p.P14S 0.782 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CRAT HGNC ENSG00000095321 40 0 0.00 27 6 18.18 - - - CRCP 0 genome.wustl.edu 37 7 65579837 65579837 + Nonsense_Mutation SNP G G T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 7 65579837 65579837 G T SNP CRCP ENST00000431089 human ensembl 69_37n +1 putative nonsense c.22 p.E8* 0.993 NULL pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core - no_errors CRCP HGNC ENSG00000241258 38 0 0.00 28 8 22.22 - - - CYP1B1-AS1 0 genome.wustl.edu 37 2 38407861 38407861 + RNA SNP A A T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 2 38407861 38407861 A T SNP CYP1B1-AS1 ENST00000413828 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors CYP1B1-AS1 HGNC ENSG00000232973 91 0 0.00 63 20 24.10 - - - DNAH5 0 genome.wustl.edu 37 5 13700790 13700790 + Missense_Mutation SNP A A T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 5 13700790 13700790 A T SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known missense c.13682 p.F4561Y 1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 79 0 0.00 85 11 11.46 - - - DNMT1 0 genome.wustl.edu 37 19 10291057 10291057 + Nonsense_Mutation SNP G G A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 19 10291057 10291057 G A SNP DNMT1 ENST00000590619 human ensembl 69_37n -1 novel nonsense c.1 p.Q1* 0.013 NULL NULL - no_start_codon:pseudogene:no_stop_codon DNMT1 HGNC ENSG00000130816 93 0 0.00 39 17 30.36 - - - DOCK6 0 genome.wustl.edu 37 19 11313275 11313275 + Missense_Mutation SNP G G A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 19 11313275 11313275 G A SNP DOCK6 ENST00000587656 human ensembl 69_37n -1 novel missense c.3211 p.L1071F 0.988 NULL pfam_DOCK - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DOCK6 HGNC ENSG00000130158 36 0 0.00 14 6 30.00 - - - DTX4 0 genome.wustl.edu 37 11 58949292 58949292 + Missense_Mutation SNP G G A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 11 58949292 58949292 G A SNP DTX4 ENST00000227451 human ensembl 69_37n +1 known missense c.292 p.D98N 1.000 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX4 HGNC ENSG00000110042 37 0 0.00 28 8 22.22 - - - DUSP19 0 genome.wustl.edu 37 2 183943850 183943850 + Missense_Mutation SNP C C A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 2 183943850 183943850 C A SNP DUSP19 ENST00000354221 human ensembl 69_37n +1 known missense c.189 p.D63E 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP - no_errors DUSP19 HGNC ENSG00000162999 126 0 0.00 87 27 23.68 - - - ENPP1 0 genome.wustl.edu 37 6 132206110 132206110 + Missense_Mutation SNP A A G TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 6 132206110 132206110 A G SNP ENPP1 ENST00000360971 human ensembl 69_37n +1 known missense c.2351 p.Y784C 0.996 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENSG00000197594 132 0 0.00 68 9 11.69 - - - EPHB1 0 genome.wustl.edu 37 3 134884889 134884889 + Silent SNP C C A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 3 134884889 134884889 C A SNP EPHB1 ENST00000398015 human ensembl 69_37n +1 known silent c.1665 p.S555 0.133 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB1 HGNC ENSG00000154928 42 0 0.00 24 17 41.46 - - - ERC1 0 genome.wustl.edu 37 12 1137553 1137553 + Silent SNP T T C TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 12 1137553 1137553 T C SNP ERC1 ENST00000360905 human ensembl 69_37n +1 known silent c.484 p.L162 0.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ENSG00000082805 50 0 0.00 19 7 26.92 - - - FAM13C 0 genome.wustl.edu 37 10 61023859 61023859 + Missense_Mutation SNP C C G TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 10 61023859 61023859 C G SNP FAM13C ENST00000373868 human ensembl 69_37n -1 known missense c.1010 p.R337P 1.000 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 101 0 0.00 53 13 19.70 - - - FAP 0 genome.wustl.edu 37 2 163083083 163083083 + Missense_Mutation SNP A A T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 2 163083083 163083083 A T SNP FAP ENST00000188790 human ensembl 69_37n -1 known missense c.140 p.I47N 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 107 0 0.00 49 28 36.36 - - - FAT3 0 genome.wustl.edu 37 11 92614034 92614034 + Frame_Shift_Del DEL G G - TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 11 92614034 92614034 G - DEL FAT3 ENST00000298047 human ensembl 69_37n +1 known frame_shift_del c.12265 p.L4090fs 1.000 smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT3 HGNC ENSG00000165323 51 0 0.00 13 2 12.50 - - - FHL1 0 genome.wustl.edu 37 X 135288738 135288738 + Silent SNP G G A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f X 135288738 135288738 G A SNP FHL1 ENST00000345434 human ensembl 69_37n +1 known silent c.147 p.A49 0.084 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL1 HGNC ENSG00000022267 32 0 0.00 17 4 19.05 - - - FRY 0 genome.wustl.edu 37 13 32863812 32863812 + Silent SNP C C T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 13 32863812 32863812 C T SNP FRY ENST00000380250 human ensembl 69_37n +1 known silent c.8512 p.L2838 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 60 0 0.00 40 9 18.37 - - - GAPDH 0 genome.wustl.edu 37 12 6646882 6646882 + Missense_Mutation SNP G G C TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 12 6646882 6646882 G C SNP GAPDH ENST00000229239 human ensembl 69_37n +1 known missense c.658 p.V220L 1.000 pfam_GlycerAld_3-P_DH_cat,pirsf_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDH HGNC ENSG00000111640 20 0 0.00 10 5 33.33 - - - GATA3 0 genome.wustl.edu 37 10 8115852 8115853 + Frame_Shift_Del DEL AT AT - TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 10 8115852 8115853 AT - DEL GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_del c.1201_1202 p.M401fs 1.000:1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 70 0 0.00 34 13 26.53 - - - GLDC 0 genome.wustl.edu 37 9 6533047 6533048 + Frame_Shift_Ins INS - - GG TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 9 6533047 6533048 - GG INS GLDC ENST00000321612 human ensembl 69_37n -1 known frame_shift_ins c.3033_3032 p.F1012fs 0.009:1.000 NULL pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo - no_errors GLDC HGNC ENSG00000178445 79 0 0.00 39 6 13.33 - - - HCRTR1 0 genome.wustl.edu 37 1 32089153 32089153 + Silent SNP G G A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 1 32089153 32089153 G A SNP HCRTR1 ENST00000373706 human ensembl 69_37n +1 known silent c.768 p.R256 0.995 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Orexin_rcpt,prints_Orexin_rcpt_1 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Orexin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt - no_errors HCRTR1 HGNC ENSG00000121764 13 0 0.00 7 6 46.15 - - - HIST1H2BJ 0 genome.wustl.edu 37 6 27100352 27100352 + Missense_Mutation SNP T T G TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 6 27100352 27100352 T G SNP HIST1H2BJ ENST00000339812 human ensembl 69_37n -1 known missense c.178 p.M60L 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BJ HGNC ENSG00000124635 88 0 0.00 88 21 19.27 - - - HNRNPKP3 0 genome.wustl.edu 37 11 43283619 43283619 + RNA DEL G G - TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 11 43283619 43283619 G - DEL HNRNPKP3 ENST00000511537 human ensembl 69_37n -1 known rna NULL NULL 0.995 - - - no_errors HNRNPKP3 HGNC ENSG00000251557 14 0 0.00 4 2 33.33 - - - HYDIN 0 genome.wustl.edu 37 16 70954761 70954761 + Missense_Mutation SNP C C A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 16 70954761 70954761 C A SNP HYDIN ENST00000316490 human ensembl 69_37n -1 known missense c.7515 p.R2505S 0.422 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 50 0 0.00 38 8 17.39 - - - KALRN 0 genome.wustl.edu 37 3 124174098 124174098 + Missense_Mutation SNP G G A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 3 124174098 124174098 G A SNP KALRN ENST00000354186 human ensembl 69_37n +1 novel missense c.3527 p.R1176Q 0.964 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KALRN HGNC ENSG00000160145 43 0 0.00 18 6 25.00 - - - KIAA0528 0 genome.wustl.edu 37 12 22627752 22627752 + Nonsense_Mutation SNP G G C TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 12 22627752 22627752 G C SNP KIAA0528 ENST00000333957 human ensembl 69_37n -1 known nonsense c.1976 p.S659* 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors KIAA0528 HGNC ENSG00000111731 112 0 0.00 53 25 32.05 - - - KIAA1217 0 genome.wustl.edu 37 10 24833030 24833030 + Missense_Mutation SNP G G T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 10 24833030 24833030 G T SNP KIAA1217 ENST00000376454 human ensembl 69_37n +1 known missense c.4831 p.D1611Y 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 49 0 0.00 36 4 10.00 - - - KIAA1328 0 genome.wustl.edu 37 18 34646885 34646885 + Missense_Mutation SNP A A C TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 18 34646885 34646885 A C SNP KIAA1328 ENST00000587139 human ensembl 69_37n +1 putative missense c.572 p.H191P 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIAA1328 HGNC ENSG00000150477 70 0 0.00 31 11 26.19 - - - LAMA4 0 genome.wustl.edu 37 6 112575076 112575077 + Frame_Shift_Del DEL GA GA - TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 6 112575076 112575077 GA - DEL LAMA4 ENST00000368638 human ensembl 69_37n -1 known frame_shift_del c.277_276 p.P93fs 0.000:0.000 NULL NULL - no_errors LAMA4 HGNC ENSG00000112769 52 0 0.00 17 2 10.53 - - - MAN1A2 0 genome.wustl.edu 37 1 118039456 118039456 + Missense_Mutation SNP C C T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 1 118039456 118039456 C T SNP MAN1A2 ENST00000449370 human ensembl 69_37n +1 known missense c.554 p.T185I 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MAN1A2 HGNC ENSG00000198162 68 0 0.00 42 19 31.15 - - - MGAT5 0 genome.wustl.edu 37 2 135206253 135206253 + Silent SNP C C T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 2 135206253 135206253 C T SNP MGAT5 ENST00000281923 human ensembl 69_37n +1 known silent c.2061 p.A687 1.000 NULL NULL - no_errors MGAT5 HGNC ENSG00000152127 58 0 0.00 32 12 27.27 - - - NPAS2 0 genome.wustl.edu 37 2 101594255 101594255 + Missense_Mutation SNP G G C TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 2 101594255 101594255 G C SNP NPAS2 ENST00000542504 human ensembl 69_37n +1 known missense c.1671 p.M557I 0.826 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_DNA-bd,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 36 0 0.00 23 8 25.81 - - - NRK 0 genome.wustl.edu 37 X 105168991 105168991 + Missense_Mutation SNP C C A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f X 105168991 105168991 C A SNP NRK ENST00000428173 human ensembl 69_37n +1 known missense c.3283 p.P1095T 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors NRK HGNC ENSG00000123572 38 0 0.00 16 9 36.00 - - - NUP54 0 genome.wustl.edu 37 4 77038880 77038881 + Frame_Shift_Del DEL AA AA - TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 4 77038880 77038881 AA - DEL NUP54 ENST00000264883 human ensembl 69_37n -1 known frame_shift_del c.1332_1331 p.F444fs 1.000:1.000 NULL NULL - no_errors NUP54 HGNC ENSG00000138750 60 0 0.00 34 13 27.66 - - - ODZ4 0 genome.wustl.edu 37 11 78381001 78381001 + Missense_Mutation SNP A A G TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 11 78381001 78381001 A G SNP ODZ4 ENST00000278550 human ensembl 69_37n -1 known missense c.6389 p.I2130T 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ4 HGNC ENSG00000149256 39 0 0.00 19 9 31.03 - - - OR4N5 0 genome.wustl.edu 37 14 20612251 20612251 + Silent SNP C C G TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 14 20612251 20612251 C G SNP OR4N5 ENST00000333629 human ensembl 69_37n +1 known silent c.357 p.A119 0.984 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4N5 HGNC ENSG00000184394 80 0 0.00 54 8 12.90 - - - PCDHGA1 0 genome.wustl.edu 37 5 140712271 140712271 + Missense_Mutation SNP G G A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 5 140712271 140712271 G A SNP PCDHGA1 ENST00000517417 human ensembl 69_37n +1 known missense c.2020 p.D674N 0.981 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 34 0 0.00 26 10 27.78 - - - PDCL 0 genome.wustl.edu 37 9 125588988 125588988 + Missense_Mutation SNP G G T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 9 125588988 125588988 G T SNP PDCL ENST00000259467 human ensembl 69_37n -1 known missense c.79 p.H27N 0.461 NULL pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin - no_errors PDCL HGNC ENSG00000136940 96 0 0.00 55 7 11.29 - - - PLA2G4D 0 genome.wustl.edu 37 15 42379619 42379619 + Missense_Mutation SNP G G T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 15 42379619 42379619 G T SNP PLA2G4D ENST00000290472 human ensembl 69_37n -1 known missense c.134 p.P45H 0.860 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4D HGNC ENSG00000159337 54 0 0.00 37 10 21.28 - - - PMP2 0 genome.wustl.edu 37 8 82355662 82355662 + Missense_Mutation SNP C C A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 8 82355662 82355662 C A SNP PMP2 ENST00000256103 human ensembl 69_37n -1 known missense c.370 p.V124L 0.900 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors PMP2 HGNC ENSG00000147588 95 0 0.00 111 28 20.14 - - - PRAMEF11 0 genome.wustl.edu 37 1 12888424 12888424 + Missense_Mutation SNP A A G TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 1 12888424 12888424 A G SNP PRAMEF11 ENST00000535591 human ensembl 69_37n -1 known missense c.100 p.C34R 0.000 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 36 0 0.00 19 4 17.39 - - - PRKCE 0 genome.wustl.edu 37 2 46313346 46313346 + Splice_Site SNP G G A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 2 46313346 46313346 G A SNP PRKCE ENST00000306156 human ensembl 69_37n +1 known splice_site c.1438-1 e11-1 1.000 - - - no_errors PRKCE HGNC ENSG00000171132 87 0 0.00 57 13 18.57 - - - PRPF8 0 genome.wustl.edu 37 17 1582137 1582137 + Silent SNP C C T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 17 1582137 1582137 C T SNP PRPF8 ENST00000304992 human ensembl 69_37n -1 known silent c.1638 p.L546 0.994 pfam_PROCN,superfamily_Histone-fold pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC ENSG00000174231 47 0 0.00 25 12 32.43 - - - PRSS55 0 genome.wustl.edu 37 8 10383206 10383206 + Silent SNP A A G TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 8 10383206 10383206 A G SNP PRSS55 ENST00000328655 human ensembl 69_37n +1 known silent c.111 p.G37 0.000 NULL pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS55 HGNC ENSG00000184647 23 0 0.00 18 8 30.77 - - - PSD3 0 genome.wustl.edu 37 8 18457916 18457916 + Silent SNP G G T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 8 18457916 18457916 G T SNP PSD3 ENST00000440756 human ensembl 69_37n -1 known silent c.2445 p.T815 0.994 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors PSD3 HGNC ENSG00000156011 154 1 0.65 69 27 28.12 - - - PSG2 0 genome.wustl.edu 37 19 43585335 43585335 + Missense_Mutation SNP G G A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 19 43585335 43585335 G A SNP PSG2 ENST00000329509 human ensembl 69_37n -1 known missense c.128 p.P43L 0.005 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG2 HGNC ENSG00000242221 204 0 0.00 180 29 13.88 - - - RAB33A 0 genome.wustl.edu 37 X 129318289 129318289 + Missense_Mutation SNP C C A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f X 129318289 129318289 C A SNP RAB33A ENST00000257017 human ensembl 69_37n +1 known missense c.289 p.R97S 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB33A HGNC ENSG00000134594 55 0 0.00 13 4 23.53 - - - RBM27 0 genome.wustl.edu 37 5 145651050 145651050 + Missense_Mutation SNP C C T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 5 145651050 145651050 C T SNP RBM27 ENST00000265271 human ensembl 69_37n +1 known missense c.2801 p.A934V 1.000 NULL pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 120 0 0.00 74 11 12.94 - - - RBMS1 0 genome.wustl.edu 37 2 161159925 161159925 + Frame_Shift_Del DEL T T - TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 2 161159925 161159925 T - DEL RBMS1 ENST00000392753 human ensembl 69_37n -1 known frame_shift_del c.476 p.N159fs 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS1 HGNC ENSG00000153250 77 0 0.00 57 19 25.00 - - - RFPL1-AS1 0 genome.wustl.edu 37 22 29833558 29833558 + RNA SNP T T C TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 22 29833558 29833558 T C SNP RFPL1-AS1 ENST00000461286 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RFPL1-AS1 HGNC ENSG00000225465 40 0 0.00 9 10 52.63 - - - RIPK2 0 genome.wustl.edu 37 8 90777697 90777697 + Silent SNP C C T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 8 90777697 90777697 C T SNP RIPK2 ENST00000220751 human ensembl 69_37n +1 known silent c.456 p.I152 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CARD,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,pfscan_CARD,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK2 HGNC ENSG00000104312 61 0 0.00 49 22 30.99 - - - RPA2 0 genome.wustl.edu 37 1 28233517 28233517 + Missense_Mutation SNP C C A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 1 28233517 28233517 C A SNP RPA2 ENST00000313433 human ensembl 69_37n -1 known missense c.519 p.K173N 1.000 pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like - no_errors RPA2 HGNC ENSG00000117748 78 0 0.00 26 25 49.02 - - - SHISA7 0 genome.wustl.edu 37 19 55952073 55952073 + Missense_Mutation SNP C C T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 19 55952073 55952073 C T SNP SHISA7 ENST00000376325 human ensembl 69_37n -1 known missense c.731 p.R244Q 0.999 NULL NULL - no_errors SHISA7 HGNC ENSG00000187902 29 0 0.00 22 5 18.52 - - - SLC22A14 0 genome.wustl.edu 37 3 38347782 38347782 + Missense_Mutation SNP T T A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 3 38347782 38347782 T A SNP SLC22A14 ENST00000273173 human ensembl 69_37n +1 known missense c.265 p.F89I 0.207 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A14 HGNC ENSG00000144671 54 0 0.00 30 6 16.67 - - - SLC2A2 0 genome.wustl.edu 37 3 170736404 170736404 + Frame_Shift_Del DEL C C - TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 3 170736404 170736404 C - DEL SLC2A2 ENST00000314251 human ensembl 69_37n -1 known frame_shift_del c.24 p.T9fs 0.760 superfamily_MFS_dom_general_subst_transpt,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glc_transpt_2,tigrfam_Sugar/inositol_transpt - no_errors SLC2A2 HGNC ENSG00000163581 39 0 0.00 42 22 33.33 - - - SLC30A8 0 genome.wustl.edu 37 8 118165274 118165274 + Silent SNP G G C TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 8 118165274 118165274 G C SNP SLC30A8 ENST00000456015 human ensembl 69_37n +1 known silent c.363 p.L121 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A8 HGNC ENSG00000164756 80 0 0.00 85 14 14.14 - - - SLC9C1 0 genome.wustl.edu 37 3 111983118 111983118 + Missense_Mutation SNP A A T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 3 111983118 111983118 A T SNP SLC9C1 ENST00000305815 human ensembl 69_37n -1 known missense c.951 p.H317Q 0.042 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 64 0 0.00 60 12 16.67 - - - SLFN12L 0 genome.wustl.edu 37 17 33802086 33802086 + Nonsense_Mutation SNP G G T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 17 33802086 33802086 G T SNP SLFN12L ENST00000449046 human ensembl 69_37n -1 known nonsense c.1716 p.Y572* 0.010 NULL pfam_ATPase_AAA-4 - no_errors SLFN12L HGNC ENSG00000205045 166 0 0.00 204 23 10.13 - - - SMAD4 0 genome.wustl.edu 37 18 48575132 48575132 + Missense_Mutation SNP T T G TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 18 48575132 48575132 T G SNP SMAD4 ENST00000342988 human ensembl 69_37n +1 known missense c.326 p.L109R 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 80 0 0.00 37 7 15.91 - - - SMARCA1 0 genome.wustl.edu 37 X 128641922 128641922 + Missense_Mutation SNP G G T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f X 128641922 128641922 G T SNP SMARCA1 ENST00000371122 human ensembl 69_37n -1 known missense c.962 p.S321Y 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 72 0 0.00 38 6 13.64 - - - SORL1 0 genome.wustl.edu 37 11 121458742 121458742 + Silent SNP G G A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 11 121458742 121458742 G A SNP SORL1 ENST00000260197 human ensembl 69_37n +1 known silent c.3828 p.T1276 0.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC ENSG00000137642 81 0 0.00 42 7 14.29 - - - SSFA2 0 genome.wustl.edu 37 2 182766619 182766619 + Missense_Mutation SNP C C A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 2 182766619 182766619 C A SNP SSFA2 ENST00000431877 human ensembl 69_37n +1 known missense c.839 p.T280K 1.000 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 47 0 0.00 27 17 37.78 - - - TARS2 0 genome.wustl.edu 37 1 150469022 150469022 + Missense_Mutation SNP C C T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 1 150469022 150469022 C T SNP TARS2 ENST00000369064 human ensembl 69_37n +1 known missense c.839 p.S280F 1.000 superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-synth_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-synth_IIa,tigrfam_Thr-tRNA-synth_IIa - no_errors TARS2 HGNC ENSG00000143374 69 0 0.00 87 18 17.14 - - - TBC1D4 0 genome.wustl.edu 37 13 75936460 75936460 + Missense_Mutation SNP C C T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 13 75936460 75936460 C T SNP TBC1D4 ENST00000377636 human ensembl 69_37n -1 known missense c.782 p.G261E 0.000 smart_PTyr_interaction_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 27 0 0.00 19 4 17.39 - - - TG 0 genome.wustl.edu 37 8 133910025 133910025 + Nonsense_Mutation SNP G G A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 8 133910025 133910025 G A SNP TG ENST00000523756 human ensembl 69_37n +1 known nonsense c.92 p.W31* 0.005 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TG HGNC ENSG00000042832 27 0 0.00 31 19 38.00 - - - TG 0 genome.wustl.edu 37 8 133953777 133953777 + Missense_Mutation SNP G G C TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 8 133953777 133953777 G C SNP TG ENST00000220616 human ensembl 69_37n +1 known missense c.5223 p.Q1741H 0.200 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 44 0 0.00 41 26 38.81 - - - TMED2 0 genome.wustl.edu 37 12 124074976 124074976 + Missense_Mutation SNP G G A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 12 124074976 124074976 G A SNP TMED2 ENST00000262225 human ensembl 69_37n +1 known missense c.461 p.R154Q 1.000 pfam_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED2 HGNC ENSG00000086598 76 0 0.00 50 12 19.35 - - - TMEM87A 0 genome.wustl.edu 37 15 42531871 42531871 + Missense_Mutation SNP C C T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 15 42531871 42531871 C T SNP TMEM87A ENST00000389834 human ensembl 69_37n -1 known missense c.681 p.M227I 1.000 pfam_TM_rcpt_euk pfam_TM_rcpt_euk - no_errors TMEM87A HGNC ENSG00000103978 80 0 0.00 36 11 23.40 - - - TMOD3 0 genome.wustl.edu 37 15 52181319 52181319 + Missense_Mutation SNP G G A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 15 52181319 52181319 G A SNP TMOD3 ENST00000308580 human ensembl 69_37n +1 known missense c.473 p.G158D 1.000 NULL pfam_Tropomodulin - no_errors TMOD3 HGNC ENSG00000138594 66 0 0.00 45 7 13.46 - - - TTN 0 genome.wustl.edu 37 2 179408789 179408789 + Missense_Mutation SNP C C A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 2 179408789 179408789 C A SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.88378 p.A29460S 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 75 0 0.00 53 11 17.19 - - - UGDH 0 genome.wustl.edu 37 4 39505533 39505533 + Missense_Mutation SNP C C T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 4 39505533 39505533 C T SNP UGDH ENST00000316423 human ensembl 69_37n -1 known missense c.1336 p.D446N 1.000 pfam_UDP-Glc/GDP-Man_DH_C,superfamily_UDP-Glc/GDP-Man_DH_C pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Nucleotide_sugar_DH - no_errors UGDH HGNC ENSG00000109814 69 0 0.00 54 7 11.48 - - - USP32P2 0 genome.wustl.edu 37 17 18422903 18422903 + RNA SNP G G C TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 17 18422903 18422903 G C SNP USP32P2 ENST00000412260 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors USP32P2 HGNC ENSG00000233327 53 0 0.00 25 27 51.92 - - - WISP1 0 genome.wustl.edu 37 8 134237778 134237778 + Silent SNP C C A TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 8 134237778 134237778 C A SNP WISP1 ENST00000250160 human ensembl 69_37n +1 known silent c.756 p.R252 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 32 0 0.00 29 4 12.12 - - - ZFYVE19 0 genome.wustl.edu 37 15 41099910 41099910 + Missense_Mutation SNP A A G TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 15 41099910 41099910 A G SNP ZFYVE19 ENST00000568062 human ensembl 69_37n +1 known missense c.71 p.Q24R 0.000 NULL superfamily_Znf_FYVE_PHD - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZFYVE19 HGNC ENSG00000166140 20 0 0.00 20 5 20.00 - - - ZNF544 0 genome.wustl.edu 37 19 58773419 58773419 + Missense_Mutation SNP A A G TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6e839eaf-1dbb-43f5-8846-c980e05540c7 c16cf182-b4b2-42c0-a2b1-ce071638de2f 19 58773419 58773419 A G SNP ZNF544 ENST00000269829 human ensembl 69_37n +1 known missense c.1447 p.K483E 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF544 HGNC ENSG00000198131 64 0 0.00 51 11 17.74 - - -